Open AccessHLA ‐ DQ β1 amino acid position 87 and DQB 1*0301 are associated with Chinese Han SLE
Author(s) -
Sun Jingying,
Yang Chao,
Fei Wenmin,
Zhang Xuelei,
Sheng Yujun,
Zheng Xiaodong,
Tang Huayang,
Yang Wanling,
Yang Sen,
Fan Xing,
Zhang Xuejun
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.403
Subject(s) - single nucleotide polymorphism , genetics , human leukocyte antigen , genome wide association study , allele , snp , haplotype , biology , antigen , genotype , gene
Background Several susceptibility loci have been identified associated with Chinese Han systemic lupus erythematosus ( SLE ). Methods We carried out imputation of classical HLA alleles, amino acids and Single Nucleotide Polymorphisms ( SNP s) across the MHC region in Chinese Han SLE genome‐wide association study ( GWAS ) of mainland and Hong Kong populations for the first time using newly constructed Han‐ MHC reference panel followed by stepwise conditional analysis. Results We mapped the most significant independent association to HLA ‐ DQ β1 at amino acid position (Phe87, p = 7.807 × 10 −17 ) and an independent association at HLA ‐ DQB 1*0301 ( P condiational = 1.43 × 10 −7 ). Conclusion Our study illustrates the value of population‐specific HLA reference panel for fine‐mapping causal variants in the MHC .